Osteopetrosis
Gene: FAM20CEnsemblGeneIds (GRCh38): ENSG00000177706
EnsemblGeneIds (GRCh37): ENSG00000177706
OMIM: 611061, Gene2Phenotype
FAM20C is in 22 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Osteosclerotic bone dysplasia particularly affecting skull and facial bones, includes choanal stenosis. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings include generalized osteosclerosis and brain calcifications. RS is usually lethal during the neonatal period due to severe respiratory distress. However, there exists a non-lethal RS form, the phenotype of which is extremely heterogeneous. Well established gene-disease association, multiple families reported.Created: 25 Mar 2021, 10:01 p.m. | Last Modified: 25 Mar 2021, 10:01 p.m.
Panel Version: 0.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome, MIM# 259775; MONDO:0009821
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Raine syndrome, MIM# 259775
- MONDO:0009821
- OMIM
- 611061
- Clinvar variants
- Variants in FAM20C
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Calcium and Phosphate disorders
- Clefting disorders
- Prepair 1000+
- Microcephaly
- Brain Calcification
- BabyScreen+ newborn screening
- Osteopetrosis
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Choanal atresia
- Arthrogryposis
- Amelogenesis imperfecta
- Mendeliome
- Renal Tubulopathies and related disorders
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fam20c has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FAM20C were changed from to Raine syndrome, MIM# 259775; MONDO:0009821
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FAM20C were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FAM20C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FAM20C was added gene: FAM20C was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM20C was set to Unknown